Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

NCT ID: NCT02354664

Last Updated: 2024-06-24

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 14 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-04-30
• Study Completion Date: 2016-10-19

Brief Summary

This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease. The investigators will adopt a strategy that includes comprehensive evaluations of respiratory volume, flow, and timing parameters during resting and loaded breathing. These evaluations will then be associated to the standard clinical measure of maximal inspiratory pressure, the static inspiratory muscle function, as well as magnetic resonance imaging of thoracic expansion and diaphragmatic descent at rest and with exertion. Outcomes in participants with late-onset Pompe disease will be contrasted to the function of age- and gender-matched control subjects. This approach will enable the investigators to evaluate the relationship between dynamic diaphragmatic function and respiratory motor function.

Detailed Description

The following tests will be completed over a two-day period: Respiratory pressure tests, breathing test, magnetic resonance imaging and magnetic resonance spectroscopy (MRI and MRS).

Conditions

Pompe Disease

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Pompe subjects

These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test.

Thoracic MRI

Intervention Type: OTHER

Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver.

Spirometry

Intervention Type: OTHER

Upright forced vital capacity (FVC)

Inspiratory Load Compensation

Intervention Type: OTHER

A spring-loaded pressure device will resist inspiration. The patient must generate the threshold inspiratory pressure to receive airflow. The changes in breathing timing, flow and volume will be recorded.

Maximal Inspiratory Pressure

Intervention Type: OTHER

Measure the maximal airflow on inhalation

Resting Breathing Pattern

Intervention Type: OTHER

The breathing pattern will be assessed when the subject is seated and in a relaxed state.

Respiratory Muscle Endurance Test

Intervention Type: OTHER

Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load.

Control subjects

These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test.

Thoracic MRI

Intervention Type: OTHER

Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver.

Spirometry

Intervention Type: OTHER

Upright forced vital capacity (FVC)

Inspiratory Load Compensation

Intervention Type: OTHER

A spring-loaded pressure device will resist inspiration. The patient must generate the threshold inspiratory pressure to receive airflow. The changes in breathing timing, flow and volume will be recorded.

Maximal Inspiratory Pressure

Intervention Type: OTHER

Measure the maximal airflow on inhalation

Resting Breathing Pattern

Intervention Type: OTHER

The breathing pattern will be assessed when the subject is seated and in a relaxed state.

Respiratory Muscle Endurance Test

Intervention Type: OTHER

Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load.

Interventions

Thoracic MRI

Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver.

Intervention Type: OTHER

Spirometry

Upright forced vital capacity (FVC)

Intervention Type: OTHER

Inspiratory Load Compensation

A spring-loaded pressure device will resist inspiration. The patient must generate the threshold inspiratory pressure to receive airflow. The changes in breathing timing, flow and volume will be recorded.

Intervention Type: OTHER

Maximal Inspiratory Pressure

Measure the maximal airflow on inhalation

Intervention Type: OTHER

Resting Breathing Pattern

The breathing pattern will be assessed when the subject is seated and in a relaxed state.

Intervention Type: OTHER

Respiratory Muscle Endurance Test

Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load.

Intervention Type: OTHER

Other Intervention Names

MIP

Eligibility Criteria

Inclusion Criteria

• Confirmed diagnosis of Pompe disease OR
• Be an age and gender-matched unaffected control subject

Exclusion Criteria

• Pre-existing obstructive lung disease or asthma
• Forced vital capacity (FVC) <30% or >80% of age/gender predicted values
• Inability to travel to the study site
• Requirement for positive pressure ventilator support when awake and upright
• Participation in longitudinal studies that may independently alter lung function
• Presence of any other chronic medical condition that, in the opinion of the investigator, would make the subject unsuitable for the study

• Minimum Eligible Age: 20 Years
• Maximum Eligible Age: 65 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

BioMarin Pharmaceutical

INDUSTRY

Sponsor Role: collaborator

University of Florida

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Barbara K. Smith, PT, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Florida

Locations

University of Florida

Gainesville, Florida, United States

Countries

United States

Other Identifiers

IRB201400763

Identifier Type: -

Identifier Source: org_study_id